Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G A rs145412486 by1000genomes TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr20:29628236G>A ENST00000278882.3 + 6 618 c.238G>A c.(238-240)Gct>Act p.A80T FRG1B_ENST00000358464.4_Missense_Mutation_p.A80T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85T p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 5 82 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17085006 17085006 + RNA SNP C C T rs147678325 by1000genomes TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr1:17085006C>T ENST00000455405.2 - 0 182 CGGATGGCCCCCAGCCACGCG 0.607000 7 43 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537905 55537905 + Missense_Mutation SNP A A C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr8:55537905A>C ENST00000220676.1 + 4 1611 c.1463A>C c.(1462-1464)gAa>gCa p.E488A NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 488 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TATAGTGAAGAAAGGGAAAGT 0.363000 16 28 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254037 39254037 + Silent SNP G G A rs141299737 by1000genomes TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr17:39254037G>A ENST00000333822.4 - 1 356 c.300C>T c.(298-300)tgC>tgT p.C100C NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 100 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 agctggggcggcagcagctgg 0.662000 3 16 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96689180 96689180 + Silent SNP G G A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr2:96689180G>A ENST00000434632.1 - 19 2364 c.1905C>T c.(1903-1905)ggC>ggT p.G635G GPAT2_ENST00000359548.4_Silent_p.G635G|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000453542.1_Silent_p.G564G Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 635 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CTGGCCGGGAGCCTGGGGTCT 0.567000 6 38 0 0 1 0 0 L3HYPDH 112849 broad.mit.edu 37 14 59942682 59942682 + Missense_Mutation SNP C C T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr14:59942682C>T ENST00000247194.4 - 4 957 c.844G>A c.(844-846)Gcc>Acc p.A282T L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A111T NM_144581.1 NP_653182.1 L-3-hydroxyproline dehydratase (trans-) TACTGTAAGGCAATTCGGGCT 0.458000 19 25 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43237164 43237164 + Missense_Mutation SNP C C T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr19:43237164C>T ENST00000327495.5 - 3 665 c.481G>A c.(481-483)Gac>Aac p.D161N PSG3_ENST00000595140.1_Missense_Mutation_p.D161N NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 161 Ig-like C2-type 1. defense response|female pregnancy extracellular region p.D161N(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GCCTCCATGTCCTCCCTGGGG 0.537000 4 126 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113783764 113783764 + Missense_Mutation SNP G G T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr2:113783764G>T ENST00000259213.4 - 5 414 c.307C>A c.(307-309)Cta>Ata p.L103I NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 103 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 attccaactagtttccagcaa 0.463000 18 29 8.34094e-07 8.7918e-07 1 1 0 CDH23 64072 broad.mit.edu 37 10 73558936 73558936 + Missense_Mutation SNP T T C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr10:73558936T>C ENST00000224721.6 + 50 7143 c.7138T>C c.(7138-7140)Tca>Cca p.S2380P CDH23_ENST00000398788.3_Missense_Mutation_p.S135P|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2375 Cadherin 22. P -> L (in dbSNP:rs4747195). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CGTGAGGGCCTCAGACAACGG 0.572000 15 18 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40890039 40890039 + Missense_Mutation SNP T T G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr19:40890039T>G ENST00000291823.2 - 2 757 c.473A>C c.(472-474)gAc>gCc p.D158A NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 158 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) GGATCCGAAGTCAATCACCTG 0.637000 15 26 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117696254 117696254 + Missense_Mutation SNP C C T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr12:117696254C>T ENST00000317775.6 - 16 3164 c.2479G>A c.(2479-2481)Ggc>Agc p.G827S NOS1_ENST00000338101.4_Missense_Mutation_p.G827S|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 827 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AAAGCACAGCCGAATTTCTGG 0.507000 11 17 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73558937 73558937 + Nonsense_Mutation SNP C C A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr10:73558937C>A ENST00000224721.6 + 50 7144 c.7139C>A c.(7138-7140)tCa>tAa p.S2380* CDH23_ENST00000398788.3_Nonsense_Mutation_p.S135*|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2375 Cadherin 22. P -> L (in dbSNP:rs4747195). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GTGAGGGCCTCAGACAACGGG 0.572000 15 18 4.7546e-09 5.15082e-09 1 1 0 CEP170 9859 broad.mit.edu 37 1 243362462 243362462 + Silent SNP A A G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr1:243362462A>G ENST00000366542.1 - 7 582 c.531T>C c.(529-531)taT>taC p.Y177Y CEP170_ENST00000366544.1_Silent_p.Y177Y|CEP170_ENST00000366543.1_Silent_p.Y177Y NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 177 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) ACGGCTGCCCATATAATGGAG 0.428000 3 20 0 0 1 0 0 BMPR1A 657 broad.mit.edu 37 10 88676986 88676986 + Missense_Mutation SNP A A T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr10:88676986A>T ENST00000372037.2 + 9 1308 c.771A>T c.(769-771)aaA>aaT p.K257N NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 257 Protein kinase. BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 GTGGCGAAAAAGTGGCGGTGA 0.453000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 8 20 0 0 1 0 0 GPR37L1 9283 broad.mit.edu 37 1 202092723 202092723 + Splice_Site SNP T T C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr1:202092723T>C ENST00000367282.4 + 1 736 c.e1+2 NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 TTCATGGAGGTGAGTGTGTGT 0.512000 17 28 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14200281 14200281 + Missense_Mutation SNP G G T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr3:14200281G>T ENST00000285021.7 - 9 1316 c.1102C>A c.(1102-1104)Caa>Aaa p.Q368K XPC_ENST00000449060.2_Missense_Mutation_p.Q331K NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 368 Lys-rich (basic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTTTCCTCTTGTTTGGTTCCT 0.517000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 16 32 3.52763e-06 3.52763e-06 1 1 0 ADAM21P1 0 broad.mit.edu 37 14 70713782 70713782 + RNA SNP A A G rs114580810 by1000genomes TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr14:70713782A>G ENST00000530196.1 - 0 736 NR_003951.1 GTCACCAGCAAATTTTGGTTC 0.443000 4 51 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130278687 130278687 + Missense_Mutation SNP G G T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr11:130278687G>T ENST00000257359.6 - 7 2605 c.1899C>A c.(1897-1899)agC>agA p.S633R NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 633 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CTTTGAACTCGCTCCTCCCCC 0.642000 30 72 1.74807e-11 1.94785e-11 1 1 0 ELF4 2000 broad.mit.edu 37 X 129208569 129208569 + Missense_Mutation SNP A A C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chrX:129208569A>C ENST00000308167.5 - 3 613 c.234T>G c.(232-234)agT>agG p.S78R ELF4_ENST00000335997.7_Missense_Mutation_p.S78R NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 78 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TCAGCAAAAAACTGCCTTCCA 0.517000 T ERG AML 23 5 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8460280 8460280 + Splice_Site SNP T T C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr9:8460280T>C ENST00000537002.1 - 16 2736 c.2633_splice c.e16-1 p.R878_splice PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000381196.4_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000355233.5_Intron P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1292 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TAAACACTTTTCCAAAAATAA 0.328000 TSP Lung(15;0.13) 6 7 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611916 44611916 + Silent SNP C C G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr3:44611916C>G ENST00000273320.3 + 6 1743 c.1314C>G c.(1312-1314)ccC>ccG p.P438P RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.P438P NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 p.P438P(1) GGGAAAAACCCTATGAATGCA 0.463000 8 13 0 0 1 0 0 BEST1 7439 broad.mit.edu 37 11 61730330 61730330 + Missense_Mutation SNP A A C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr11:61730330A>C ENST00000449131.2 + 9 1610 c.1524A>C c.(1522-1524)aaA>aaC p.K508N BEST1_ENST00000301774.9_Missense_Mutation_p.K196N|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.K481N|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.K568N NM_001139443.1 NP_001132915.1 O76090 BEST1_HUMAN bestrophin 1 568 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 CTACACTCAAAGATCACATGG 0.502000 10 22 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628268 29628268 + Missense_Mutation SNP A A T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr20:29628268A>T ENST00000278882.3 + 6 650 c.270A>T c.(268-270)agA>agT p.R90S FRG1B_ENST00000358464.4_Missense_Mutation_p.R90S|FRG1B_ENST00000439954.2_Missense_Mutation_p.R95S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GCTTTATTAGATGCAATGAAG 0.358000 4 73 0 0 1 0 0 NDE1 54820 broad.mit.edu 37 16 15771720 15771720 + Silent SNP C C G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr16:15771720C>G ENST00000396355.1 + 5 1126 c.300C>G c.(298-300)ctC>ctG p.L100L NDE1_ENST00000396354.1_Silent_p.L100L|NDE1_ENST00000396353.2_Silent_p.L100L|NDE1_ENST00000342673.5_Silent_p.L100L NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 100 Interaction with PAFAH1B1 (By similarity). cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding p.L100L(1) endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 AGGATGACCTCGCGCAGACCA 0.498000 10 9 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105832989 105832989 + Nonsense_Mutation SNP T T A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr10:105832989T>A ENST00000353479.5 - 7 684 c.394A>T c.(394-396)Aga>Tga p.R132* COL17A1_ENST00000393211.3_Nonsense_Mutation_p.R132*|COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R132* NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 132 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CTCCGTCCTCTGGTTGAAGAA 0.418000 7 159 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3274852 3274852 + Missense_Mutation SNP C C T rs149733245 by1000genomes TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr20:3274852C>T ENST00000252032.9 - 25 2238 c.2171G>A c.(2170-2172)cGg>cAg p.R724Q C20orf194_ENST00000453730.2_Missense_Mutation_p.R462Q NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 724 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 AAGATGGGTCCGCATCACAGG 0.468000 4 28 0 0 1 0 0 USP12 219333 broad.mit.edu 37 13 27745742 27745742 + Missense_Mutation SNP G G A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr13:27745742G>A ENST00000282344.6 - 1 291 c.35C>T c.(34-36)tCc>tTc p.S12F NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 12 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) GGTACAGATGGAGGCGAATTT 0.721000 8 7 0 0 1 0 0 ZNF713 349075 broad.mit.edu 37 7 56007346 56007346 + Missense_Mutation SNP T T G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr7:56007346T>G ENST00000429591.2 + 4 978 c.940T>G c.(940-942)Tca>Gca p.S314A MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CCGTCAGCATTCATCCTTTAC 0.403000 40 62 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70187414 70187414 + Missense_Mutation SNP G G C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr16:70187414G>C ENST00000288050.4 + 18 3130 c.2173G>C c.(2173-2175)Gat>Cat p.D725H PDPR_ENST00000542659.1_Missense_Mutation_p.D70H|PDPR_ENST00000567046.1_Missense_Mutation_p.D83H|PDPR_ENST00000568530.1_Missense_Mutation_p.D725H|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000398122.3_Missense_Mutation_p.D625H NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 725 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CTGGGGTCAGGATATAAATAA 0.478000 5 8 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696450 47696450 + Missense_Mutation SNP A A G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr17:47696450A>G ENST00000393331.3 - 7 843 c.373T>C c.(373-375)Ttt>Ctt p.F125L SPOP_ENST00000503676.1_Missense_Mutation_p.F125L|SPOP_ENST00000393328.2_Missense_Mutation_p.F125L|SPOP_ENST00000504102.1_Missense_Mutation_p.F125L|SPOP_ENST00000347630.2_Missense_Mutation_p.F125L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 125 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F125V(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CCTTGCACAAACCTATATGCC 0.433000 Prostate(2;0.17) 36 46 0 0 1 0 0 C19orf24 55009 broad.mit.edu 37 19 1279101 1279101 + Missense_Mutation SNP C C T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr19:1279101C>T ENST00000469144.1 + 3 601 c.292C>T c.(292-294)Ctc>Ttc p.L98F C19orf24_ENST00000409293.4_3'UTR Q9BVV8 CS024_HUMAN chromosome 19 open reading frame 24 39 cytoplasm|extracellular region part|integral to membrane Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGACTTGTGCCTCTCTCCTGC 0.667000 16 34 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59797408 59797408 + Splice_Site SNP T T C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr14:59797408T>C ENST00000395125.1 + 12 1583 c.e12+2 DAAM1_ENST00000351081.1_Splice_Site|DAAM1_ENST00000360909.3_Splice_Site NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CTCAGCAGGGTGAGGTCTTCC 0.512000 9 10 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25671849 25671849 + Missense_Mutation SNP C C T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr13:25671849C>T ENST00000281589.3 + 1 1550 c.1513C>T c.(1513-1515)Cgg>Tgg p.R505W NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 505 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CACGGTTCCACGGTATAAATA 0.532000 21 27 0 0 1 0 0 RRP9 9136 broad.mit.edu 37 3 51972181 51972183 + In_Frame_Del DEL CTC CTC - TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr3:51972181_51972183delCTC ENST00000232888.6 - 3 281_283 c.208_210delGAG c.(208-210)del p.E70del NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 70 Glu-rich. rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) TTtcctccagctcctcctcctcc 0.616 2 4 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 3 3 --- --- --- --- PCNXL3 399909 broad.mit.edu 37 11 65385547 65385547 + Frame_Shift_Del DEL C C - TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr11:65385547delC ENST00000355703.3 + 6 1253 c.714delC c.(712-714)agfs p.S238fs NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 238 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CTCCCATGAGCCCCCTGCTGA 0.642 2 4 --- --- --- --- PACS1 55690 broad.mit.edu 37 11 65838130 65838130 + Frame_Shift_Del DEL C C - TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr11:65838130delC ENST00000320580.4 + 1 206 c.173delC c.(172-174)tgfs p.S59fs NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 59 Ser-rich. interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TCGTCGTCCTCGTCCACCTCG 0.766 2 4 --- --- --- --- LEPREL2 10536 broad.mit.edu 37 12 6946538 6946538 + RNA DEL C C - TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr12:6946538delC ENST00000251761.8 + 0 1593 LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 GCCGAGACCACCCTCCCCTTG 0.627 2 4 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72828649 72828650 + Frame_Shift_Ins INS - - A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr16:72828649_72828650insA ENST00000268489.5 - 9 8603_8604 c.7931_7932insT c.(7930-7932)tagfs p.*2644fs ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.*1730fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2644 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TGGTTGTTCTCAAACGCTTGTC 0.490 7 194 --- --- --- --- ERBB2 2064 broad.mit.edu 37 17 37872561 37872561 + Frame_Shift_Del DEL G G - TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr17:37872561delG ENST00000406381.2 + 15 1941 c.1431delG c.(1429-1431)gafs p.E477fs ERBB2_ENST00000584450.1_Frame_Shift_Del_p.E507fs|ERBB2_ENST00000269571.5_Frame_Shift_Del_p.E507fs|ERBB2_ENST00000541774.1_Frame_Shift_Del_p.E492fs|ERBB2_ENST00000540147.1_Frame_Shift_Del_p.E477fs|ERBB2_ENST00000445658.2_Frame_Shift_Del_p.E231fs|ERBB2_ENST00000578199.1_Frame_Shift_Del_p.E477fs|ERBB2_ENST00000540042.1_Frame_Shift_Del_p.E477fs|ERBB2_ENST00000584601.1_Frame_Shift_Del_p.E477fs NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 507 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CAGTGGGCGAGGGCCTGGCCT 0.677 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 2 4 --- --- --- ---